Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: USH2A HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.2:p.Asn4182Lys	CA344850669 NM_206933.3:c.12546T>G CA344850670 NM_206933.3:c.12546T>A